Evidence map›Paper›PMID 31628324›Full record

ArticleNature communications2019

Identification of atrial fibrillation associated genes and functional non-coding variants.

Antoinette F van Ouwerkerk, Fernanda M Bosada, Karel van Duijvenboden, Matthew C Hill, Lindsey E Montefiori, Koen T Scholman, Jia Liu, Antoine A F de Vries, Bastiaan J Boukens, Patrick T Ellinor and 6 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed, 2 pooled it
4.8field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

59 citing papers in PubMed, 2 syntheses or guidelines pooled it, 91 citations in OpenAlex.

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  17. Atrial cardiomyopathy revisited-evolution of a concept: a clinical consensus statement of the European Heart Rhythm Association (EHRA) of the ESC, the Heart Rhythm Society (HRS), the Asian Pacific Heart Rhythm Society (APHRS), and the Latin American Heart Rhythm Society (LAHRS).Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2024
    Article
  18. Genetics, transcriptomics, metagenomics, and metabolomics in the pathogenesis and prediction of atrial fibrillation.European heart journal supplements : journal of the European Society of Cardiology · 2024
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors at 6 institutions in 3 countries.

Antoinette F van OuwerkerkDepartment of Medical Biology, Amsterdam University Medical Centers, Academic Medical Center, 1105 AZ, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0002-1583-1785
Fernanda M BosadaDepartment of Medical Biology, Amsterdam University Medical Centers, Academic Medical Center, 1105 AZ, Amsterdam, The Netherlands.
Karel van DuijvenbodenDepartment of Medical Biology, Amsterdam University Medical Centers, Academic Medical Center, 1105 AZ, Amsterdam, The Netherlands.
Matthew C HillProgram in Developmental Biology, Baylor College of Medicine, Houston, TX, 77030, USA.ORCID http://orcid.org/0000-0003-4578-3873
Lindsey E MontefioriDepartment of Human Genetics, The University of Chicago, Chicago, USA.
Koen T ScholmanDepartment of Medical Biology, Amsterdam University Medical Centers, Academic Medical Center, 1105 AZ, Amsterdam, The Netherlands.
Jia LiuDepartment of Cardiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
Antoine A F de VriesDepartment of Cardiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
Bastiaan J BoukensDepartment of Medical Biology, Amsterdam University Medical Centers, Academic Medical Center, 1105 AZ, Amsterdam, The Netherlands.
Patrick T EllinorCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2067-0533
Marie José T H GoumansDepartment of Cell and Chemical Biology, Leiden University Medical Center, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.ORCID http://orcid.org/0000-0001-9344-6746
Igor R EfimovDepartment of Biomedical Engineering, George Washington University, Washington, DC, USA.ORCID http://orcid.org/0000-0002-1483-5039
Marcelo A NobregaDepartment of Human Genetics, The University of Chicago, Chicago, USA.
Phil BarnettDepartment of Medical Biology, Amsterdam University Medical Centers, Academic Medical Center, 1105 AZ, Amsterdam, The Netherlands.
James F MartinProgram in Developmental Biology, Baylor College of Medicine, Houston, TX, 77030, USA.
Vincent M ChristoffelsDepartment of Medical Biology, Amsterdam University Medical Centers, Academic Medical Center, 1105 AZ, Amsterdam, The Netherlands. v.m.christoffels@amsterdamumc.nl.
Amsterdam UMC Location University of Amsterdam · NLLeiden University Medical Center · NLBaylor College of Medicine · USUniversity of Chicago · USBroad Institute · USGeorge Washington University · US

Funding

Comprehensive Structural and Functional Mapping of the Mammalian Cardiac Nervous SystemOT2OD023848 · OD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI EFIMOV, IGOR R, FOWLKES, CHARLESS · 2016 to 2021
$21.4M
Pitx2 in atrial fibrillationR01HL118761 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI MARTIN, JAMES F · 2014 to 2025
$6.1M
Hippo and Wnt Signaling in Cardiac RegenerationR01HL127717 · NHLBI · TEXAS HEART INSTITUTE · PI MARTIN, JAMES F · 2016 to 2023
$4.4M
Optical elastography for assessment of myocardial regenerationR01HL130804 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI LARIN, KIRILL V, MARTIN, JAMES F · 2016 to 2019
$2.9M
The transcriptional landscapes and cell states of regenerative cardiomyocytesF31HL136065 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI HILL, MATTHEW CRAIG · 2017 to 2019
$134k
Elucidation of long-range gene regulation during cardiomyocyte developmentF31HL137307 · NHLBI · UNIVERSITY OF CHICAGO · PI MONTEFIORI, LINDSEY · 2017 to 2018
$72k
NHLBI NIH HHS F31 HL136065NHLBI NIH HHS F31 HL137307NHLBI NIH HHS R01 HL118761NHLBI NIH HHS R01 HL127717NHLBI NIH HHS R01 HL130804NIH HHS OT2 OD023848
6 · The paper itself

Abstract

Disease-associated genetic variants that lie in non-coding regions found by genome-wide association studies are thought to alter the functionality of transcription regulatory elements and target gene expression. To uncover causal genetic variants, variant regulatory elements and their target genes, here we cross-reference human transcriptomic, epigenomic and chromatin conformation datasets. Of 104 genetic variant regions associated with atrial fibrillation candidate target genes are prioritized. We optimize EMERGE enhancer prediction and use accessible chromatin profiles of human atrial cardiomyocytes to more accurately predict cardiac regulatory elements and identify hundreds of sub-threshold variants that co-localize with regulatory elements. Removal of mouse homologues of atrial fibrillation-associated regions in vivo uncovers a distal regulatory region involved in Gja1 (Cx43) expression. Our analyses provide a shortlist of genes likely affected by atrial fibrillation-associated variants and provide variant regulatory elements in each region that link genetic variation and target gene regulation, helping to focus future investigations.

Indexed as

Polymorphism, Single NucleotideAnimalsAtrial FibrillationCell LineChromatinEpigenomicsGene Expression ProfilingGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHeart AtriaHumansMiceMyocytes, CardiacRegulatory Sequences, Nucleic AcidChromatin

Identifiers

PMID31628324
PMCPMC6802215
OpenAlexW2980809855

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.